Mandibuloacral dysplasia explained

Mandibuloacral dysplasia
Synonyms:	MAD^[1]
Field:	Medical genetics

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.^[2]

Types

Type	OMIM	Gene	Locus
MADA		LMNA^[3]	1q21.2
MADB		ZMPSTE24^[4]	1p34

See also

• Hereditary sclerosing poikiloderma
• Skin lesion

Notes and References

1. Web site: Mandibuloacral dysplasia . Genetic and Rare Diseases . NIH . 19 March 2019.
2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. .
3. Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M. 2012. A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.. Eur J Hum Genet. 20. 11. 1134–40. 10.1038/ejhg.2012.77. 3476705. 22549407.
4. Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S. 2012. Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.. Hum Mol Genet. 21. 18. 4084–93. 10.1093/hmg/dds233. 3428156. 22718200.